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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Antley-Bixler syndrome without disordered steroidogenesis
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Accession:DOID:0081290 term browser browse the term
Definition:An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome. (DO)
Synonyms:exact_synonym: ABS2;   ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS
 primary_id: OMIM:207410
 alt_id: DOID:9007609


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Antley-Bixler syndrome without disordered steroidogenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis OMIM
ClinVar		 PMID:7607643 PMID:7668257 PMID:7719344 PMID:7719345 PMID:7773284 More... NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815 		JBrowse link
G LOC100990437 NADPH--cytochrome P450 reductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:68,035,021...68,105,934
Ensembl chr 7:82,364,418...82,437,530 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15697
    syndrome 10220
      Antley-Bixler syndrome 3
        Antley-Bixler syndrome without disordered steroidogenesis 2
Path 2
Term Annotations click to browse term
  disease 15697
    disease of anatomical entity 15311
      musculoskeletal system disease 7839
        connective tissue disease 5362
          bone disease 3883
            bone development disease 2303
              dysostosis 584
                synostosis 378
                  craniosynostosis 316
                    Antley-Bixler syndrome 3
                      Antley-Bixler syndrome without disordered steroidogenesis 2
paths to the root